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Attitudes toward glaucoma genetic risk assessment among affected and unaffected individuals in an Australian population

机译:Attitudes toward glaucoma genetic risk assessment among affected and unaffected individuals in an Australian population

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摘要

Purpose: Genetic testing for diseases with complex inheritance patterns such as glaucoma will become increasingly accessible with the advent of polygenic risk score (PRS) testing. This study investigates public attitudes towards the use of PRS testing to predict glaucoma at a population level. Methods: We performed a cross-sectional, questionnaire based survey of 1169 individuals with glaucoma and 418 individuals without diagnosed glaucoma to evaluate attitudes towards glaucoma PRS testing. Results: Our results demonstrated generally positive attitudes towards glaucoma PRS testing, with 69.4 of affected individuals and 71.3 of unaffected individuals indicating personal interest in testing. Among glaucoma-affected individuals, interest in PRS screening was highest in those who perceived their risk of developing glaucoma as high (odds ratio, OR 2.1, 95 confidence interval, CI 1.3-3.3, p = 0.003) and those who were worried about developing glaucoma (OR 2.1, 95 CI 1.3-3.4, p = 0.004). In individuals without glaucoma, interest was highest in those who perceived their risk of glaucoma as high (OR 14.6, 95 CI 1.1-185.5, p = 0.039), those who were worried about developing glaucoma (OR 4.4, 95 CI 2.3-8.2, p < 0.001), and those who would rather know than not know their risk (OR 4.5, 95 CI (2.3-8.8), p < 0.001). Conclusions: This study demonstrated a strong community interest in glaucoma PRS testing. These findings support the drive to implement population-based genetic screening as an initiative to reduce the burden of glaucoma-associated vision loss.

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